Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Gly499Arg (p.G499R)
(
ENST00000650516.2,
ENST00000343257.7 )
CLCN1 p.Gly499Arg (p.G499R) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal recessive form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) AND Congenital myotonia, autosomal recessive form
- ClinVar Allele ID
- 32582
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1450G>A
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.1495G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019096
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
- Pubmed
- 10644771
Drugs